Five novel mutations ofGALNSin Korean patients with mucopolysaccharidosis IVA-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Five novel mutations ofGALNSin Korean patients with mucopolysaccharidosis IVA

Published:2013-02-08 Issue:3 Volume:161 Page:509-517
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Park Hyung-Doo,Ko Ah-Ra,Ki Chang-Seok,Lee Soo-Youn,Kim Jong-Won,Cho Sung Yoon,Kim Se Hwa,Park Sung Won,Sohn Young Bae,Jin Dong-Kyu

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. A case of Hunter syndrome;Ahn;Korean J Dermatol,2008

2. Variable clinical presentation in lysosomal storage disorders;Beck;J Inherit Metab Dis,2001

3. Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome;Bunge;Hum Mutat,1997

4. Extensive Mongolian spots associated with Hunter syndrome;Chun;Korean J Dermatol,2002

5. Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice;Dvorak-Ewell;PLoS ONE,2010

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA;Molecular Genetics and Metabolism Reports;2022-06

2. Marketing of drugs for rare diseases is speeding up in China: Looking at the example of drugs for mucopolysaccharidosis;Intractable & Rare Diseases Research;2019-08-31

3. Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype;Gene;2019-07

4. Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease;Gene;2017-02

5. GALNSmutations in Indian patients with mucopolysaccharidosis IVA;American Journal of Medical Genetics Part A;2014-09-22

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3